ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.897G>C (p.Leu299Phe)

gnomAD frequency: 0.00001  dbSNP: rs527236063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept Of Ophthalmology, Nagoya University RCV003888548 SCV004706312 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132605 SCV000172554 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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